DNAH5 Antibody, FITC conjugated

1. A novel mutation causing primary ciliary dyskinesia was found in Japanese patients. PMID: 28939216
2. to the best of our knowledge, the first reported case of PCD caused by the DNAH5 mutation in a Japanese patient. PMID: 27779714
3. These findings demonstrated that new DNAH5 mutations could be used for molecular diagnosis of Kartagener syndrome, providing families with genetic counseling and prenatal diagnosis. PMID: 27988889
4. The mutation of p.Glu2610Gly in DNAH5 is novel. PMID: 24912412
5. In chronic obstructive pulmonary disease, total lung capacity was associated with a SNP in DNAH5. PMID: 25134640
6. A novel mutation in DNAH5 (c. 8030G>A) is identified in a Han Chinese family with chronic rhinosinusitis and primary ciliary dyskinesia. PMID: 24150548
7. DNAH5 (rs2277046) is associated with single nucleotide polymorphisms in Korean patients, either non-segmental or segmental type. PMID: 23678272
8. DNAH5 is the cause of primary ciliary dyskinesia in two siblings in a nuclear family as identified by whole genome sequencing. PMID: 20220176
9. immunofluorescence studies of respiratory epithelial cells with secondary ciliary dyskinesia identified in vitro and in vivo normal axonemal DNAH5 localization PMID: 16492982
10. DNAH5 is frequently mutated in patients with primary ciliary dyskinesia exhibiting outer dynein arm defects and mutations cluster in five exons. PMID: 16627867
11. Male carriers of the mutations always exhibit asthenozoospermia, whereas female carriers manifest no alterations in either fertility or pulmonary clearance. PMID: 18492703
12. Two dynein genes, encoding ODA intermediate chain (DNAI1) and heavy chain (DNAH5), have been seen to be mutated in approximately 30-38% of the families PMID: 19300264
13. Although genetic alterations remain to be identified in most patients, DNAH5 is to date the main PCD gene. PMID: 19357118
14. Two "major" genes, DNAI1 and DNAH5, underlie PCD in nearly half of the patients with ODA defects PMID: 19410201

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HGNC: 2950

OMIM: 603335

KEGG: hsa:1767

STRING: 9606.ENSP00000265104

UniGene: Hs.212360